1197156008: Intermediate nemaline myopathy (disorder)

• SNOMED CT Concept\Clinical finding\...
• \General finding of soft tissue\Finding of power of skeletal muscle\Muscle weakness\Nemaline myopathy\Nemaline myopathy, early onset type\Intermediate nemaline myopathy
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Nemaline myopathy\Nemaline myopathy, early onset type\Intermediate nemaline myopathy
• \Muscle finding\Finding of power of skeletal muscle\Muscle weakness\Nemaline myopathy\Nemaline myopathy, early onset type\Intermediate nemaline myopathy
• \Muscle finding\Myopathy\Disorder of skeletal muscle\Nemaline myopathy\Nemaline myopathy, early onset type\Intermediate nemaline myopathy
• \Musculoskeletal finding\Finding of power of skeletal muscle\Muscle weakness\Nemaline myopathy\Nemaline myopathy, early onset type\Intermediate nemaline myopathy
• \Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Intermediate nemaline myopathy
• \Musculoskeletal finding\Musculoskeletal disorder\Chronic disease of musculoskeletal system\Intermediate nemaline myopathy
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal muscle\Nemaline myopathy\Nemaline myopathy, early onset type\Intermediate nemaline myopathy
• \Disease\Genetic disease\Nemaline myopathy\Nemaline myopathy, early onset type\Intermediate nemaline myopathy
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Intermediate nemaline myopathy
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Intermediate nemaline myopathy
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Intermediate nemaline myopathy
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Intermediate nemaline myopathy
• \Disease\Disorder of body system\Musculoskeletal disorder\Chronic disease of musculoskeletal system\Intermediate nemaline myopathy
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Nemaline myopathy\Nemaline myopathy, early onset type\Intermediate nemaline myopathy
• \Disease\Myopathy\Disorder of skeletal muscle\Nemaline myopathy\Nemaline myopathy, early onset type\Intermediate nemaline myopathy
• \Disease\Congenital disease\Nemaline myopathy, early onset type\Intermediate nemaline myopathy
• \Disease\Chronic disease\Chronic disease of musculoskeletal system\Intermediate nemaline myopathy
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Nemaline myopathy\Nemaline myopathy, early onset type\Intermediate nemaline myopathy

Status: current, Primitive. Date: 28-Feb 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4695208013	Intermediate nemaline myopathy	en	Synonym	Active	Case insensitive	SNOMED CT core
4695209017	Intermediate nemaline myopathy (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
4695211014	A type of nemaline myopathy that shows features of typical nemaline myopathy in neonates with a more severe progression. Neonates present with spontaneous anti-gravity movements and active respiratory muscles, but with a progressive generalized weakness which prevents achievement of gross motor milestones or leads to loss of ambulation and/or independent respiration by age 11 years. Children often develop joint contractures. The ACTA1 (1q42.13), NEB (2q22) or TPM3 (1q21.2) genes have been associated with this disease. The transmission pattern of the disease is autosomal recessive or dominant.	en	Definition	Active	Case sensitive	SNOMED CT core
4695212019	A type of nemaline myopathy that shows features of typical nemaline myopathy in neonates with a more severe progression. Neonates present with spontaneous anti-gravity movements and active respiratory muscles, but with a progressive generalised weakness which prevents achievement of gross motor milestones or leads to loss of ambulation and/or independent respiration by age 11 years. Children often develop joint contractures. The ACTA1 (1q42.13), NEB (2q22) or TPM3 (1q21.2) genes have been associated with this disease. The transmission pattern of the disease is autosomal recessive or dominant.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

REPLACED BY association reference set

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